omia.variant:699
Genomic description: NC_006597.3:g.18332036_18332037ins[A[29];GGAAGCAACAGGATG]
Coding DNA description: NM_001313773.1:c.142_143ins[A[29];GGAAGCAACAGGATG]
Protein description: NP_001300702.1:p.(I49Kfs*26)
Gene: RPGRIP1
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